Variant report

Variant	rs5751603
Chromosome Location	chr22:23525082-23525083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr22:23524634-23525282	MCF10A-Er-Src	breast:	n/a	n/a
2	TBL1XR1	chr22:23520604-23527305	K562	blood:	n/a	n/a
3	HDAC2	chr22:23520523-23526205	K562	blood:	n/a	chr22:23521032-23521051
4	POLR2A	chr22:23520633-23526356	K562	blood:	n/a	n/a
5	NR2F2	chr22:23524552-23525325	MCF-7	breast:	n/a	n/a
6	IKZF1	chr22:23524451-23525751	GM12878	blood:	n/a	n/a
7	PML	chr22:23524300-23525105	GM12878	blood:	n/a	n/a
8	POLR2A	chr22:23524619-23525253	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr22:23524620-23525309	HUVEC	blood vessel:	n/a	n/a
10	MXI1	chr22:23524097-23525104	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:23524737-23525099	HUVEC	blood vessel:	n/a	n/a
12	UBTF	chr22:23520613-23526470	K562	blood:	n/a	n/a
13	TEAD4	chr22:23524624-23525209	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr22:23521095-23526502	K562	blood:	n/a	n/a
15	WRNIP1	chr22:23524424-23526158	GM12878	blood:	n/a	n/a
16	TEAD4	chr22:23520448-23527326	K562	blood:	n/a	n/a
17	POLR2A	chr22:23521572-23527572	K562	blood:	n/a	n/a
18	CUX1	chr22:23524237-23526348	K562	blood:	n/a	n/a
19	TBP	chr22:23520623-23526179	K562	blood:	n/a	n/a
20	MAX	chr22:23521486-23525908	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
21	ZBTB7A	chr22:23521531-23525286	K562	blood:	n/a	chr22:23522591-23522599 chr22:23522590-23522598
22	FOS	chr22:23524752-23525124	MCF10A-Er-Src	breast:	n/a	chr22:23525017-23525026 chr22:23525042-23525053 chr22:23525041-23525049
23	POLR2A	chr22:23521884-23526135	K562	blood:	n/a	n/a
24	RELA	chr22:23524630-23525100	GM12891	blood:	n/a	n/a
25	PBX3	chr22:23524545-23525155	SK-N-SH	brain:	n/a	n/a
26	NR2F2	chr22:23523039-23527297	K562	blood:	n/a	n/a
27	GATA3	chr22:23524554-23525329	MCF-7	breast:	n/a	chr22:23525078-23525086 chr22:23525016-23525026
28	ZC3H11A	chr22:23520594-23526970	K562	blood:	n/a	n/a
29	MAX	chr22:23524122-23525253	MCF-7	breast:	n/a	chr22:23524440-23524449 chr22:23524440-23524449 chr22:23524441-23524448
30	MTA3	chr22:23524061-23525154	GM12878	blood:	n/a	n/a
31	MAX	chr22:23520537-23526174	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
32	GTF2F1	chr22:23520624-23526023	K562	blood:	n/a	n/a
33	MYC	chr22:23520609-23526146	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
34	CBX3	chr22:23520451-23527677	K562	blood:	n/a	chr22:23520879-23520890
35	TBL1XR1	chr22:23524430-23526916	K562	blood:	n/a	n/a
36	SP2	chr22:23523510-23527543	K562	blood:	n/a	n/a
37	TCF12	chr22:23524572-23525278	ECC-1	luminal epithelium:	n/a	n/a
38	SMC3	chr22:23524067-23525096	K562	blood:	n/a	n/a
39	NR2F2	chr22:23523076-23527616	K562	blood:	n/a	n/a
40	ZNF143	chr22:23524264-23525866	K562	blood:	n/a	n/a
41	POLR2A	chr22:23522483-23526159	K562	blood:	n/a	n/a
42	ESR1	chr22:23524698-23525164	ECC-1	luminal epithelium:	n/a	n/a
43	ELK1	chr22:23524093-23526056	K562	blood:	n/a	n/a
44	SIN3A	chr22:23522466-23525958	H1-hESC	embryonic stem cell:	n/a	chr22:23522712-23522723 chr22:23522875-23522884
45	EGR1	chr22:23525051-23526538	K562	blood:	n/a	chr22:23525731-23525744 chr22:23525731-23525744 chr22:23525734-23525744 chr22:23525731-23525744
46	ZNF384	chr22:23524211-23527243	K562	blood:	n/a	n/a
47	RUNX3	chr22:23524318-23525285	GM12878	blood:	n/a	chr22:23524550-23524567
48	RCOR1	chr22:23523140-23526435	K562	blood:	n/a	n/a
49	PML	chr22:23520528-23526389	K562	blood:	n/a	n/a
50	TEAD4	chr22:23520525-23527111	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:23410861..23412817-chr22:23523391..23525696,2	K562	blood:
2	chr22:23379763..23382306-chr22:23523564..23525887,2	K562	blood:
3	chr22:23520909..23526395-chr22:23622717..23628021,9	MCF-7	breast:
4	chr22:23524791..23527515-chr22:23557976..23560778,2	MCF-7	breast:
5	chr22:23523350..23525203-chr22:23562155..23564317,2	MCF-7	breast:
6	chr22:23522684..23525634-chr22:23628553..23630815,2	MCF-7	breast:
7	chr22:23333630..23336043-chr22:23523399..23525506,2	K562	blood:
8	chr22:23519615..23526434-chr22:23614924..23625964,20	MCF-7	breast:
9	chr22:23524748..23526644-chr22:23623688..23624869,6	K562	blood:
10	chr22:23522895..23526255-chr22:23576324..23579715,3	MCF-7	breast:
11	chr22:23521185..23525273-chr22:23592606..23595379,3	MCF-7	breast:
12	chr22:23522033..23525900-chr22:23589634..23593895,5	MCF-7	breast:
13	chr22:23522919..23527024-chr9:133630421..133633989,3	K562	blood:
14	chr22:23523258..23525761-chr22:23611153..23612989,2	MCF-7	breast:

Variant related genes	Relation type
BCRP8	TF binding region
ENSG00000186716	Chromatin interaction
ENSG00000128266	Chromatin interaction

Extended variants
information (count: 171 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs1051875	0.84[JPT][hapmap]
rs10775764	0.84[ASN][1000 genomes]
rs12167308	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap]
rs12484280	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13054985	0.83[JPT][hapmap]
rs1805058	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs1807702	0.83[ASN][1000 genomes]
rs1807705	0.82[ASN][1000 genomes]
rs1807706	0.84[ASN][1000 genomes]
rs1858746	0.84[CEU][hapmap]
rs1987043	0.83[AMR][1000 genomes]
rs1989777	0.84[CEU][hapmap]
rs2008176	0.84[ASN][1000 genomes]
rs2071431	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071432	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071433	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071434	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071435	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071436	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2106109	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2157710	0.84[JPT][hapmap]
rs2246716	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs2249692	0.80[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2266995	0.84[CEU][hapmap]
rs2266997	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs2266998	0.84[CEU][hapmap];0.83[MEX][hapmap]
rs2266999	0.88[CEU][hapmap]
rs2267004	0.84[JPT][hapmap]
rs2267006	0.84[JPT][hapmap]
rs2267007	0.80[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2267008	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267009	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267010	0.85[JPT][hapmap]
rs2267011	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267012	0.85[JPT][hapmap]
rs2267013	0.84[GIH][hapmap]
rs2267014	0.81[JPT][hapmap]
rs2267016	0.80[GIH][hapmap]
rs2283802	0.86[ASW][hapmap];0.92[CEU][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap]
rs2283803	0.84[JPT][hapmap]
rs2283804	0.84[JPT][hapmap]
rs2301554	0.84[JPT][hapmap]
rs2301555	0.80[CHB][hapmap]
rs2330336	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs2330338	0.84[CEU][hapmap]
rs2330361	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3761418	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788343	0.84[CEU][hapmap]
rs3788347	0.84[JPT][hapmap]
rs3788348	0.84[JPT][hapmap]
rs3788356	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3788357	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810614	0.84[CEU][hapmap]
rs3827315	0.84[CEU][hapmap]
rs4552283	0.84[ASN][1000 genomes]
rs4820536	0.88[CEU][hapmap];0.91[MEX][hapmap]
rs4820537	0.84[JPT][hapmap]
rs4820539	0.84[JPT][hapmap]
rs4820541	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4820542	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4822354	0.84[CEU][hapmap]
rs4822357	0.84[JPT][hapmap]
rs4822359	0.84[JPT][hapmap]
rs4822360	0.84[JPT][hapmap]
rs4822361	0.84[JPT][hapmap]
rs4822362	0.84[JPT][hapmap]
rs4822369	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55637879	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5751578	0.83[CEU][hapmap]
rs5751579	0.83[CEU][hapmap];0.91[MEX][hapmap]
rs5751587	0.81[JPT][hapmap]
rs5751589	0.84[JPT][hapmap]
rs5751593	0.80[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5751596	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs5751597	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5751598	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5751600	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5751601	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5751602	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5751606	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5751607	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5759580	0.87[MEX][hapmap]
rs5759593	0.84[JPT][hapmap]
rs5759598	0.84[JPT][hapmap]
rs5759600	0.84[JPT][hapmap]
rs5759603	0.84[JPT][hapmap]
rs5759604	0.93[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5759607	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5759608	0.80[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759609	0.84[ASN][1000 genomes]
rs5759611	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5759612	0.80[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759613	0.80[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759614	0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759615	0.80[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759616	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5759617	0.84[ASN][1000 genomes]
rs5759618	0.84[ASN][1000 genomes]
rs5759619	0.80[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs5759620	0.80[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759621	0.80[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759622	0.83[ASN][1000 genomes]
rs5759624	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5759628	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5759629	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5759630	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5759631	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5759635	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5759637	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5759638	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57983679	0.82[ASN][1000 genomes]
rs5996483	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6003502	0.84[CEU][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap]
rs6003518	0.84[JPT][hapmap]
rs60037456	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6519411	0.84[CEU][hapmap];0.83[MEX][hapmap]
rs6519421	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs713617	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs713682	0.80[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7289172	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73152631	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737818	0.88[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs737819	0.80[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs737820	0.84[ASN][1000 genomes]
rs739362	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs756633	0.80[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs768514	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8138361	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8142746	0.80[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs874138	0.88[CEU][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap]
rs885964	0.84[JPT][hapmap]
rs916583	0.84[JPT][hapmap]
rs916584	0.84[JPT][hapmap]
rs916585	0.81[JPT][hapmap]
rs9608085	0.84[ASN][1000 genomes]
rs9612234	0.84[JPT][hapmap]
rs9612237	0.83[JPT][hapmap]
rs9612244	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9612251	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9612252	0.80[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs9612253	0.84[ASN][1000 genomes]
rs9612257	0.84[JPT][hapmap]
rs9624047	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9624048	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9624049	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9624050	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9624051	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv1058604	chr22:23497533-23545751	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs5751603	CYB5R2	trans	lymphoblastoid	seeQTL
rs5751603	BCR	cis	cerebellum	SCAN
rs5751603	PI4KA	cis	cerebellum	SCAN
rs5751603	RAB36	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23522000-23525800	Transcr. at gene 5' and 3'	Right Atrium	heart
2	chr22:23522400-23525800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:23522400-23526400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr22:23523000-23525400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:23523000-23526000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr22:23523200-23525800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:23523200-23526000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr22:23523400-23525600	Flanking Active TSS	Right Ventricle	heart
9	chr22:23523400-23527400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr22:23523600-23525200	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:23523600-23525200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:23523600-23525200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr22:23523600-23525200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr22:23523600-23525200	Flanking Active TSS	Spleen	Spleen
15	chr22:23523600-23525400	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr22:23523600-23525800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr22:23523600-23525800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:23523600-23525800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr22:23523600-23525800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr22:23523600-23526000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:23523600-23526000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr22:23523600-23526000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr22:23523600-23526000	Flanking Active TSS	Liver	Liver
24	chr22:23523600-23526000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr22:23523600-23526000	Flanking Active TSS	Placenta	Placenta
26	chr22:23523600-23526000	Flanking Active TSS	Ovary	ovary
27	chr22:23523600-23526000	Flanking Active TSS	NH-A	brain
28	chr22:23523600-23526200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:23523600-23526200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr22:23523600-23526200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr22:23523600-23526200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr22:23523600-23526200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
33	chr22:23523600-23526200	Flanking Active TSS	HMEC	breast
34	chr22:23523600-23526200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr22:23523600-23526400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr22:23523600-23526400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:23523600-23526400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:23523600-23526400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:23523600-23526400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr22:23523600-23526400	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr22:23523600-23526400	Flanking Active TSS	GM12878-XiMat	blood
42	chr22:23523600-23527400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
43	chr22:23523600-23527600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr22:23523600-23527800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:23523800-23525200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:23523800-23525200	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr22:23523800-23525200	Transcr. at gene 5' and 3'	A549	lung
48	chr22:23523800-23525600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:23523800-23526000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
50	chr22:23523800-23526000	Flanking Active TSS	Left Ventricle	heart

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